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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Cancer

Specificity

Tissue

Detectable

Cell line

Detectable

Cancer

Detectable

Cancer

Prognosis

Category

Score

Score

Score

Antibodies

Column

 
 
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NEFL
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    TISSUE

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TISSUE ATLAS PRIMARY DATA
MOUSE BRAIN

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

GENERAL INFORMATION

Gene name

NEFL

Gene description

Neurofilament, light polypeptide

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

2
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:Tissue enriched (cerebral cortex)
FANTOM5:Tissue enhanced (brain, hippocampus)

Protein evidence

Evidence at protein level

Protein expression

Selective expression in neurons and processes in CNS.

DATA RELIABILITY

Data reliability
description

Antibody staining consistent with RNA expression data.

Reliability score

Supported based on 1 antibody.
HPA014850
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Cerebral cortex

Cerebellum

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (cerebral cortex)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (brain, hippocampus)

GENE INFORMATION

Gene name

NEFL (HGNC Symbol)

Synonyms

CMT1F, CMT2E, NF68, NFL, PPP1R110

Description

Neurofilament, light polypeptide (HGNC Symbol)

Entrez gene summary

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]

Chromosome

8

Cytoband

p21.2

Chromosome location (bp)

24950955 - 24957110

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000277586 (version 83.38)

Entrez gene

4747

UniProt

P07196 (UniProt - Evidence at protein level)

neXtProt

NX_P07196

Antibodypedia

NEFL antibodies

PROTEIN BROWSER

NEFL-001
NEFL-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEFL-001
ENSP00000482169
ENST00000610854
P07196 [Direct mapping]
Neurofilament light polypeptide
Show all
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0000165 [MAPK cascade]
GO:0000186 [activation of MAPKK activity]
GO:0000226 [microtubule cytoskeleton organization]
GO:0005198 [structural molecule activity]
GO:0005200 [structural constituent of cytoskeleton]
GO:0005515 [protein binding]
GO:0005737 [cytoplasm]
GO:0005829 [cytosol]
GO:0005882 [intermediate filament]
GO:0005883 [neurofilament]
GO:0007173 [epidermal growth factor receptor signaling pathway]
GO:0007264 [small GTPase mediated signal transduction]
GO:0007265 [Ras protein signal transduction]
GO:0007268 [synaptic transmission]
GO:0007411 [axon guidance]
GO:0008022 [protein C-terminus binding]
GO:0008089 [anterograde axon cargo transport]
GO:0008090 [retrograde axon cargo transport]
GO:0008286 [insulin receptor signaling pathway]
GO:0008543 [fibroblast growth factor receptor signaling pathway]
GO:0009636 [response to toxic substance]
GO:0010033 [response to organic substance]
GO:0014012 [peripheral nervous system axon regeneration]
GO:0019896 [axon transport of mitochondrion]
GO:0019904 [protein domain specific binding]
GO:0021510 [spinal cord development]
GO:0021766 [hippocampus development]
GO:0021987 [cerebral cortex development]
GO:0030424 [axon]
GO:0030426 [growth cone]
GO:0030674 [protein binding, bridging]
GO:0031133 [regulation of axon diameter]
GO:0033596 [TSC1-TSC2 complex]
GO:0033693 [neurofilament bundle assembly]
GO:0038095 [Fc-epsilon receptor signaling pathway]
GO:0040011 [locomotion]
GO:0042802 [identical protein binding]
GO:0043005 [neuron projection]
GO:0043209 [myelin sheath]
GO:0043274 [phospholipase binding]
GO:0043434 [response to peptide hormone]
GO:0043524 [negative regulation of neuron apoptotic process]
GO:0045087 [innate immune response]
GO:0045105 [intermediate filament polymerization or depolymerization]
GO:0045109 [intermediate filament organization]
GO:0045110 [intermediate filament bundle assembly]
GO:0046982 [protein heterodimerization activity]
GO:0048010 [vascular endothelial growth factor receptor signaling pathway]
GO:0048011 [neurotrophin TRK receptor signaling pathway]
GO:0048812 [neuron projection morphogenesis]
GO:0050772 [positive regulation of axonogenesis]
GO:0050885 [neuromuscular process controlling balance]
GO:0051258 [protein polymerization]
GO:0051412 [response to corticosterone]
GO:0060052 [neurofilament cytoskeleton organization]
GO:1903935 [response to sodium arsenite]
GO:1903937 [response to acrylamide]
Show all
543 aa
61.5 kDa
No 0
NEFL-201
ENSP00000483690
ENST00000619417
A0A087X0W2 [Direct mapping]
Neurofilament light polypeptide
Show all
Predicted intracellular proteins
Show all
GO:0005198 [structural molecule activity]
GO:0005882 [intermediate filament]
GO:0005883 [neurofilament]
Show all
284 aa
32.6 kDa
No 0

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